Cowden syndrome screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
According to the National Comprehensive Cancer Network (NCCN) Guidelines, screening for cowden syndrome patients is recommended for women who are at risk for breast cancer, uterine cancer and colon cancer.
Screening
According to the National Comprehensive Cancer Network (NCCN) Guidelines, screening for cowden syndrome patients is recommended for women who are at risk for:[1]
- Breast cancer
- Starting at the age of 25 years, breast exam should be considered for every 6-12 months[2].[3][4][5][6]
- Starting at the age of 30-35 years, patients should consider magnetic resonance imaging (MRI) and and mammogram.
- Patients who are at risk for breast cancer also should consider 3D mammography.
- Uterine cancer
- Endometrial cancer
- Starting at the age of 30-35 years, annual uterine biopsies or ultrasound should be considered.
- Colon cancer
- Starting at the age of 35 years, for every 5 years colonoscopy should be considered.[8][9][10]
- Thyroid cancer
- Renal cancer
- Starting at the age of 40 years, for every 1-2 years ultrasound of should kidney should be considered.
- Skin cancer
References
- ↑ Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB (July 2014). "Hamartomatous polyposis syndromes: a review". Orphanet J Rare Dis. 9: 101. doi:10.1186/1750-1172-9-101. PMC 4112971. PMID 25022750.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Mester J, Eng C (January 2015). "Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome". J Surg Oncol. 111 (1): 125–30. doi:10.1002/jso.23735. PMID 25132236.
- ↑ FitzGerald MG, Marsh DJ, Wahrer D, Bell D, Caron S, Shannon KE, Ishioka C, Isselbacher KJ, Garber JE, Eng C, Haber DA (August 1998). "Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer". Oncogene. 17 (6): 727–31. doi:10.1038/sj.onc.1201984. PMID 9715274.
- ↑ Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR (January 2015). "Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel". Cancer. 121 (1): 25–33. doi:10.1002/cncr.29010. PMID 25186627.
- ↑ Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB (July 2014). "Hamartomatous polyposis syndromes: a review". Orphanet J Rare Dis. 9: 101. doi:10.1186/1750-1172-9-101. PMC 4112971. PMID 25022750.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (September 2012). "Is colorectal surveillance indicated in patients with PTEN mutations?". Colorectal Dis. 14 (9): e562–6. doi:10.1111/j.1463-1318.2012.03121.x. PMID 22672595.
- ↑ Kato M, Mizuki A, Hayashi T, Kunihiro T, Nagata H, Tsukada N, Orikasa H, Morinaga S (July 2000). "Cowden's disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis". Intern. Med. 39 (7): 559–63. PMID 10888212.
- ↑ Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C (January 2012). "Lifetime cancer risks in individuals with germline PTEN mutations". Clin. Cancer Res. 18 (2): 400–7. doi:10.1158/1078-0432.CCR-11-2283. PMC 3261579. PMID 22252256.
- ↑ Harach HR, Soubeyran I, Brown A, Bonneau D, Longy M (December 1999). "Thyroid pathologic findings in patients with Cowden disease". Ann Diagn Pathol. 3 (6): 331–40. doi:10.1053/ADPA00300331. PMID 10594284.
- ↑ Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
- ↑ Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW (March 1986). "The Cowden syndrome: a clinical and genetic study in 21 patients". Clin. Genet. 29 (3): 222–33. PMID 3698331.
- ↑ Hall JE, Abdollahian DJ, Sinard RJ (August 2013). "Thyroid disease associated with Cowden syndrome: A meta-analysis". Head Neck. 35 (8): 1189–94. doi:10.1002/hed.22971. PMID 22431287.
- ↑ Mester J, Eng C (January 2015). "Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome". J Surg Oncol. 111 (1): 125–30. doi:10.1002/jso.23735. PMID 25132236.
- ↑ Mester J, Eng C (January 2015). "Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome". J Surg Oncol. 111 (1): 125–30. doi:10.1002/jso.23735. PMID 25132236.
- ↑ Nosé V (June 2016). "Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome". Head Neck Pathol. 10 (2): 131–8. doi:10.1007/s12105-016-0708-7. PMC 4838969. PMID 26975628.